The expanding spectrum of NFIB ‐associated phenotypes in a diverse patient population—A report of two new patients

2020 ◽  
Vol 182 (12) ◽  
pp. 2959-2963
Author(s):  
Kathleen Barrus ◽  
Shannon Rego ◽  
Tiffany Yip ◽  
Pierre‐Marie Martin ◽  
Orit A. Glen ◽  
...  
2018 ◽  
pp. cebp.0123.2018 ◽  
Author(s):  
Jennifer L. Beebe-Dimmer ◽  
Terrance L Albrecht ◽  
Tara E. Baird ◽  
Julie J Ruterbusch ◽  
Theresa Hastert ◽  
...  

2011 ◽  
Vol 121 (S5) ◽  
pp. S314-S314
Author(s):  
Jeffrey Cheng ◽  
Nancy Jiang ◽  
Benjamin Malkin

2019 ◽  
Vol 24 (6) ◽  
pp. 521-533 ◽  
Author(s):  
May Mak ◽  
Carol Lam ◽  
Sandra J. Pineda ◽  
Mimi Lou ◽  
Lilia Yang Xu ◽  
...  

Introduction: Many warfarin-related genotypes have shown to impact the average daily warfarin (ADW) dose requirements; however, information in non-Caucasian populations is limited. Objectives: To identify the frequencies of 4 warfarin-related gene polymorphisms in an ethnically diverse patient population and to examine their impact with other clinical variables on ADW dose requirements. Methods: Patients were recruited from 2 anticoagulation clinics in the Los Angeles area. Blood samples were collected and genotyped for vitamin K epoxide reductase (VKORC1), CYP2C9*2, CYP2C9*3, and CYP4F2 after informed consent. Charts were reviewed to collect demographic, clinical, and warfarin dosing data. Results: A total of 291 patients were included (120 Caucasians, 127 Hispanics, and 44 Asians). In patients with wild-type genotypes for VKORC1, CYP2C9*2, CYP2C9*3, and CYP4F2, the highest warfarin requirement was found in Caucasians, lower in Hispanics, and lowest in Asians. Homozygous VKORC1 variant carriers were detected in 15%, 15%, and 79% in Caucasians, Hispanics, and Asians, respectively. Progressive lowering of ADW doses were associated with each VKORC1 variant in Caucasians and Hispanics, but the results in wild-type/ heterozygote Asians were unclear. CYP2C9 variants were associated with lower ADW doses; frequencies of CYP2C9*2 and CYP2C9*3 mutations were higher in Caucasians than in Hispanics but rare to none in Asians. The frequencies of CYP4F2 variant were similar across all ethnicities, but their impact on warfarin dose requirement were insignificant. Clinical factors such as age, body surface area, history of coronary artery disease, deep vein thrombosis or atrial fibrillation, and concomitant amiodarone or HMG-CoA reductase inhibitors had varying impact on the ADW requirements in the ethnicities studied. Conclusions: Our study demonstrated differences among 3 ethnic groups in terms of ADW dose requirements and the impact of associated clinical variables. The results suggest that a single model for all ethnicities may not provide the best performance in predicting warfarin dose requirements.


2021 ◽  
Vol 39 (28_suppl) ◽  
pp. 159-159
Author(s):  
Lauren M. Hamel ◽  
Roger Soulliere ◽  
Fatmeh Baidoun ◽  
Tanina Foster ◽  
Elisabeth I. Heath ◽  
...  

159 Background: Assessing patient-centered communication (PCC) is critical to improving quality patient-centered cancer care. While shown to be reliable and valid, most PCC measures were created by researchers, likely neglecting concerns of patients, families, and community members. PCC measures should be driven, in part, by the patient population of interest, especially given disparities in clinical communication. Our objective was to develop and validate a patient-informed PCC scale to assess cancer treatment discussions. Methods: As part of a larger study on communication and minority accrual to trials, we convened a panel of black and white cancer survivors, caregivers, and advocates. Panel members (n = 11) included 5 black and 3 white men and 1 black and 2 white women. Among them were 6 survivors and 5 caregivers. Panel members met regularly over six months to observe and discuss video-recorded treatment discussions between black and white men with prostate cancer and their physicians. Through an iterative process of generating and refining a list of physician communication behaviors they considered to be critical to PCC in a diverse patient population, they produced a list of 22 items, titled Patient-Informed Cancer Communication Scale (PICCS). We then applied the list as an observational scale to a set of video-recorded treatment discussions (n = 61) from the larger study. Trained raters applied the list and had acceptable inter-rater reliability. We used findings to determine constructs using scale development and factor analysis, then validated the scale through correlation with established scales. Results: We evaluated each item for content validity and feasibility. We divided some items that were assessing multiple attributes. The result was a 28-item scale. Using Classical Test Theory, we reduced the scale to 22 items. Using factor analysis, we identified five factors, including: 1. Treatment options (10 items a =.92); 2. Clinical relationship (6-items a =.92); 3. Prognosis and goals of treatment (2-items a =.79); 4. Explanations (2-items a =.43); and 5. Context (1-item). To validate, we correlated factors with two validated scales, one measuring physician PCC and the other patient active participation. Factor 1 was positively correlated with patient active participation ( r=.46; p=.003); Factor 2 with PCC ( r=.54, p. <.001); Factor 3 with patient active participation ( r=.48; p=.002); and Factor 5 with PCC ( r=.47, p=.002). The full PICCS scale was positively correlated with patient active participation ( r=.37, p=.02). PICCS Factor 4 was not correlated to the scales. Conclusions: This community-engaged research produced a reliable and valid patient-informed scale to assess PCC during cancer clinical interactions. Next steps include translating the findings by using PICCS to train physicians to communicate effectively in a diverse patient population.


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